Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.L52L

c.156G>A

Surrounding Variants

1 paper

NM_000251.3

p.L52L

c.156G>C

7 papers

NM_000251.3

p.A53T

c.157G>A

6 papers

NM_000251.3

p.A53S

c.157G>T

1 paper

NM_000251.3

p.A54_R55delFs

c.161_164del4

1 paper

NM_000251.3

p.L52Q

c.155T>A

2 papers

NM_000251.3

p.L52P

c.155T>C

1 paper

NM_000251.3

p.L52R

c.155T>G

2 papers

NM_000251.3

p.A53insFs

c.157dupG

1 paper

NM_000251.3

p.L52delFs

c.156delG

3 papers

NM_000251.3

p.L52M

c.154C>A

2 papers

NM_000251.3

p.A53D

c.158C>A

4 papers

NM_000251.3

p.L52insFs

c.154_155insG